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Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients 下载免费PDF全文
Ensenauer RE Adeyinka A Flynn HC Michels VV Lindor NM Dawson DB Thorland EC Lorentz CP Goldstein JL McDonald MT Smith WE Simon-Fayard E Alexander AA Kulharya AS Ketterling RP Clark RD Jalal SM 《American journal of human genetics》2003,73(5):1027-1040
Chromosome 22, particularly band 22q11.2, is predisposed to rearrangements due to misalignments of low-copy repeats (LCRs). DiGeorge/velocardiofacial syndrome (DG/VCFS) is a common disorder resulting from microdeletion within the same band. Although both deletion and duplication are expected to occur in equal proportions as reciprocal events caused by LCR-mediated rearrangements, very few microduplications have been identified. We have identified 13 cases of microduplication 22q11.2, primarily by interphase fluorescence in situ hybridization (FISH). The size of the duplications, determined by FISH probes from bacterial artificial chromosomes and P(1) artificial chromosomes, range from 3-4 Mb to 6 Mb, and the exchange points seem to involve an LCR. Molecular analysis based on 15 short tandem repeats confirmed the size of the duplications and indicated that at least 1 of 15 loci has three alleles present. The patients' phenotypes ranged from mild to severe, sharing a tendency for velopharyngeal insufficiency with DG/VCFS but having other distinctive characteristics, as well. Although the present series of patients was ascertained because of some overlapping features with DG/VCF syndromes, the microduplication of 22q11.2 appears to be a new syndrome. 相似文献
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Andrew Bengsen Rhett Robinson Cameron Chaffey Jason Gavenlock Vanessa Hornsby Rob Hurst Mark Fosdick 《Ecological Management & Restoration》2014,15(1):97-100
Many camera trap surveys aiming to detect the effects of management actions on pest animal populations are not as useful as they could be, because they do not produce informative results. We used mixed effects models, signed ranks tests and occupancy models to examine changes in the activity and occurrence of European red fox (Vulpes vulpes L.) in areas subjected to repeated fox management operations. In agricultural land, mixed effects models identified a decline in fox activity after baiting in 1 year, but not the next. Occupancy models revealed a decrease in fox occurrence in a National Park following control operations. These methods, combined with appropriate survey designs, could greatly enhance the value of many pest animal surveys conducted by management agencies. 相似文献
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Benjamin W. Hoose Ryan S. Call Thomas H. Bates Rhett M. Anderson Bruce A. Roundy Matthew D. Madsen 《Restoration Ecology》2019,27(5):959-965
Small‐seeded species are an integral component of many natural systems. However, small‐seeded species are often omitted from restoration projects due to limited flow through seeders, low broadcast distance, and inconsistent seeding rates. To address these problems, we developed a novel technique within a rotary coater that allows for the conglomeration of small, low‐purity seeds using a combination of clay, compost, water, and a polymer binder. We used Wyoming big sagebrush (Artemisia tridentata ssp. wyomingensis), which has a seed size of approximately 1 mm or less, as a model species to evaluate the technology. We demonstrated improved flowability of conglomerates over untreated (control) seeds through measurements of the Hausner ratio (8% decrease), the angle of repose (21% decrease), and delivery through a broadcast seeder. Seeding rates of conglomerated seed were more consistent than control seed over rugged terrain. Conglomerates were also broadcast 2.2 times further than control seed, which may mitigate the overall cost of implementing this technology. Laboratory trials demonstrated that the final germination of conglomerated seed averaged 15% higher than control seed. Field trials at two sites demonstrated that seedling emergence was similar for control and conglomerated seed. With no deleterious effects observed from the conglomeration treatment, additional research is merited for using conglomerates as a platform to apply various additives, such as fungicides, plant growth hormones, fertilizers, and biologicals. The potential outcomes of these strategies may have a significant impact on future seeding attempts by improving seed delivery and increasing overall seeding success. 相似文献
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Harrison RD 《Proceedings. Biological sciences / The Royal Society》2003,270(Z1):S76-S79
The stability of interactions in remaining rainforest fragments is an issue of considerable concern for conservation. Figs are a pre-eminent tropical keystone resource because of their importance for wildlife, but are dependent on tiny (1-2 mm) species-specific wasps for pollination. To investigate fig wasp dispersal I trapped insects at various heights (5-75 m) in an isolated fragment (ca. 4500 ha) of Bornean rain forest. Fig wasps constituted the majority of captures above the canopy (pollinators 47%, non-pollinators 5%). However, genera were not evenly represented. There were 50% more species of monoecious fig pollinator than there were host species in the fragment, indicating some must have arrived from forests with different assemblages of figs at least 30 km away. Dioecious fig pollinators were poorly represented suggesting more limited dispersal, which could account for higher endemism and vulnerability to catastrophic disturbance in these figs. Diurnal activity and flight height also varied among genera. Most non-pollinating fig wasps were very rare. 相似文献